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Pitt–Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt–Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk factor with highly...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674405/ https://www.ncbi.nlm.nih.gov/pubmed/23640545 http://dx.doi.org/10.1038/emm.2013.32 |